Mutation details:

cDNA level identifier:

c.(7+1_8-1)_(412+1_413-1)del

Archive identifier/Other designation:

deletion of exons 2-3

Gene name:

Parkin

Consequence:

structural variation

Pathogenicity scoring:

definitely pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-Parkin

Number of all included cases:

3 homozygous, 1 heterozygous, 17 compound heterozygous (21 in total).

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